Rax retina and anterior neural fold homeobox [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Raxprovided by MGI
Official Full Name: retina and anterior neural fold homeoboxprovided by MGI
Primary source: MGI:MGI:109632
See related: Ensembl:ENSMUSG00000024518 AllianceGenome:MGI:109632
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rx; ey1; ey-1; 7530406A22Rik; E130303K03Rik
Summary: Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including camera-type eye development; hypothalamus development; and limb development. Predicted to be located in nucleus. Is expressed in several structures, including central nervous system; eye; genitourinary system; hemolymphoid system; and neural ectoderm. Human ortholog(s) of this gene implicated in isolated microphthalmia 3. Orthologous to human RAX (retina and anterior neural fold homeobox). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 18 E1; 18 39.03 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (66067710..66072160, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (65934639..65939089, complement)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Rax homeoprotein in Muller glial cells is required for homeostasis maintenance of the postnatal mouse retina.
Title: The Rax homeoprotein in Müller glial cells is required for homeostasis maintenance of the postnatal mouse retina.
The Rx transcription factor is required for determination of the retinal lineage and regulates the timing of neuronal differentiation.
Title: The Rx transcription factor is required for determination of the retinal lineage and regulates the timing of neuronal differentiation.
Adult-born proopiomelanocortin neurons derived from Rax-expressing precursors mitigate the metabolic effects of congenital hypothalamic proopiomelanocortin deficiency.
Title: Adult-born proopiomelanocortin neurons derived from Rax-expressing precursors mitigate the metabolic effects of congenital hypothalamic proopiomelanocortin deficiency.
The mouse Rax knockout model showed defects in the anterior and posterior pituitary and absence of the palate and basisphenoid bone.
Title: Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men.
Together these data demonstrate the importance of Rx for retinal progenitor proliferation and a specific requirement of Rx for cone formation in mice.
Title: The role of the Rx homeobox gene in retinal progenitor proliferation and cell fate specification.
Deletion of Rax in the eye generated loss of central visual pathways and the suprachiasmatic nucleus was absent.
Title: A modulatory role of the Rax homeobox gene in mature pineal gland function: Investigating the photoneuroendocrine circadian system of a Rax conditional knockout mouse.
the role of Rax in the early stages of hypothalamic development
Title: Essential function of the transcription factor Rax in the early patterning of the mammalian hypothalamus.
Rax and Crx cooperatively transactivate Rhodopsin and cone opsin promoters and an optimum Rax expression level to transactivate photoreceptor gene expression exists.
Title: Rax Homeoprotein Regulates Photoreceptor Cell Maturation and Survival in Association with Crx in the Postnatal Mouse Retina.
This study provided evidence that Rax is required for the normal differentiation and patterning of hypothalamic tanycytes and ependymal cells, as well as for maintenance of the cerebrospinal fluid-hypothalamus barrier.
Title: Rax regulates hypothalamic tanycyte differentiation and barrier function in mice.
miR-29b mediated ethanol neurotoxicity through the SP1/RAX/PKR cascade.
Title: MicroRNA-29b regulates ethanol-induced neuronal apoptosis in the developing cerebellum through SP1/RAX/PKR cascade.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1) 1 citation
Targeted (7) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Rax (e-PCR), detects polymorphism
- UniSTS:233987

AF001906 (e-PCR)
- UniSTS:181138

Rax (e-PCR), detects polymorphism
- UniSTS:527031

Raxos1 (e-PCR), detects polymorphism
- UniSTS:527032

Raxos1 (e-PCR), detects polymorphism
- UniSTS:527033

Rax (e-PCR), detects polymorphism
- UniSTS:507887

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hypothalamus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within limb development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within pattern specification process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: retinal homeobox protein Rx

Names: Rx/rax homeoprotein; eyeless 1; retina and anterior neural fold homeobox protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.